A5063056392- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
- Autophagy in Disease and Therapy
- Immune Cell Function and Interaction
- Microtubule and mitosis dynamics
- Estrogen and related hormone effects
- Histone Deacetylase Inhibitors Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ubiquitin and proteasome pathways
- Inflammatory Bowel Disease
- Ion channel regulation and function
- Genomics and Chromatin Dynamics
- Protein Tyrosine Phosphatases
- Eosinophilic Esophagitis
- Genomics, phytochemicals, and oxidative stress
- Congenital Diaphragmatic Hernia Studies
- IL-33, ST2, and ILC Pathways
- Cancer-related molecular mechanisms research
- Respiratory viral infections research
- Mycobacterium research and diagnosis
- Blood disorders and treatments
- Epigenetics and DNA Methylation
- Ovarian function and disorders
- Retinoids in leukemia and cellular processes
- Genomics and Rare Diseases
Qatar Airways (Qatar)
2020-2025
Sidra Medical and Research Center
2017-2021
Institut Galien Paris-Saclay
2014
Université Paris-Sud
2013-2014
Both at a basal level and after induction (especially in response to nutrient starvation), the function of autophagy is allow cells degrade recycle damaged organelles, proteins other biological constituents. Here, we focus on role microtubules have autophagosome formation, transport across cytoplasm formation autolysosomes. Recent insights into exact relationship between now point importance microtubule dynamics, tubulin post-translational modifications motors process. Such factors regulate...
Background/Objectives: Hypospadias, a common congenital anomaly in males, presents significant challenges diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered by lack of integrated biobank cohorts linking clinical, phenotypic, surgical data with biological samples. This study aimed to establish Hypospadias Biobank Cohort (HBC), comprehensive resource designed advance understanding hypospadias etiology improve patient outcomes....
Abstract The C2H2-type zinc finger protein ZNF764 acts as an enhancer for several steroid hormone receptors, and haploinsufficiency of this gene may be responsible tissue resistance to multiple hormones including glucocorticoids observed in a patient with 16p11.2 microdeletion. We examined genome-wide regulatory actions on the glucocorticoid receptor (GR) HeLa cells model system. ZNF764- GR-binding sites demonstrated similar distribution various genomic features. They positioned...
Abstract Nuclear hormone receptors (NRs) mediate biologic actions of lipophilic molecules to gene transcription and are phylogenetically functionally categorized into seven subfamilies three groups, respectively. Single-nucleotide variations (SNVs) or polymorphisms genetic changes influencing individual response environmental factors susceptibility various disorders, part the diversification basis for evolution. We sorted out SNVs human NR genes from 60,706 individuals, calculated parameters...
Abstract Purpose The interleukin-7 receptor (IL-7R) is primarily expressed on lymphoid cells and plays a crucial role in the development, proliferation, survival of T cells. Autosomal recessive mutations that disrupt IL-7Rα chain expression give rise to severe combined immunodeficiency (SCID), which characterized by lymphopenia − B + NK phenotype. objective here was diagnose two siblings displaying SCID phenotype as initial clinical genetic testing did not detect any variants known genes....
Store-operated Ca2+ entry (SOCE) represents a predominant influx pathway in non-excitable cells. SOCE is required for immune cell activation and mediated by the plasma membrane (PM) channel ORAI1 endoplasmic reticulum (ER) sensor STIM1. Mutations Orai1 or STIM1 genes abolish leading to combined immunodeficiency (CID), muscular hypotonia, anhidrotic ectodermal dysplasia. Here, we identify novel autosomal recessive mutation child with CID. The patient homozygous p.C126R second transmembrane...
<ns4:p>The collection of large-scale datasets available in public repositories is rapidly growing and providing opportunities to identify fill gaps different fields biomedical research. However, users these should be able selectively browse related their field interest. Here we made a transcriptome human follicular cells from normal individuals or patients with polycystic ovary syndrome, the process development, during <ns4:italic>in vitro</ns4:italic> fertilization. After RNA-seq dataset...
Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent which immune signaling and host defense are impaired unclear. We assessed functional consequences of novel, homozygous nonsense STK4 mutation (NM_006282.2:c.871C > T, p.Arg291*) identified in pediatric patient by comparing his innate adaptive cell-mediated humoral responses with those three heterozygous relatives unrelated controls.The...
Inflammatory bowel diseases (IBD) encompass a group of chronic inflammatory disorders primarily impacting the gastrointestinal system, and they may also affect other organ systems.While common forms IBD typically arise from multifactorial causes, there exists subset patients with single gene defects known as monogenic (mIBD).Over 100 genes have been associated mIBD, spanning various biological pathways which tissues; immune system is most commonly involved, but more rarely, intestinal...
Abstract The human genome expresses numerous and different forms of non-protein-coding (nc) RNAs from over 80% its sequence in addition to mRNAs. Although their overall functions biological importance are still under intensive investigation, they appear be important for supporting complex biology. Some these ncRNAs recently identified several fluids, such as serum, urine saliva. Here we present a comprehensive analysis on the short presented mouse serum by employing three organs, adrenal...
Abstract Purpose. Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency. The extent which STK4 impairs immune signaling and host defenses unclear. We assessed the functional consequences of novel, homozygous nonsense mutation (NM_006282.2:c.871C>T, p.Arg291*) found in pediatric patient by comparing patient’s innate adaptive cell-mediated humoral responses with those three heterozygous relatives unrelated...